Severe autonomic dysfunction as a presenting feature of Wilsonís disease
Neurology Unit, Department of Neurological Sciences, Christian Medical College Hospital, Vellore, Tamilnadu - 632 004, India
Neurology Unit, Department of Neurological Sciences, Christian Medical College Hospital, Vellore, Tamilnadu - 632 004
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Kumar S. Severe autonomic dysfunction as a presenting feature of Wilsonís disease.J Postgrad Med 2005;51:75-76
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Kumar S. Severe autonomic dysfunction as a presenting feature of Wilsonís disease. J Postgrad Med [serial online] 2005 [cited 2019 Nov 19 ];51:75-76
Available from: http://www.jpgmonline.com/text.asp?2005/51/1/75/14035
Wilson's disease (WD) is known for its protean clinical manifestations. Though neuropsychiatric symptoms are common in WD, autonomic nervous system involvement has received inadequate attention. However, few recent reports describe the clinical and electrophysiological features of autonomic involvement in WD.,, We describe a young man, initially presenting with features of severe autonomic dysfunction with the diagnosis of WD being made later, when he developed dystonia and Parkinsonism. The frequency of autonomic dysfunction in WD and its possible mechanisms are discussed.
28-year-old man presented with history of postural giddiness, impaired sweating, palpitations, urgency of micturition and erectile dysfunction for four months. He had two episodes of syncopal attacks on rising up from recumbent position. On examination, optic fundi, motor, sensory, and cerebellar systems were normal. Detailed bedside autonomic function tests were abnormal [Table:1]. Investigations showed normal haemogram and biochemistry. Detailed motor and sensory nerve conduction studies were normal. However, sympathetic skin responses (SSRs) were absent in all four limbs. Upper gastrointestinal endoscopy performed after an overnight fasting showed residual food particles in the stomach suggestive of gastroparesis.
As there was no obvious cause for dysautonomia, he was symptomatically treated with fludrocortisone. Two months later, he had persistent autonomic symptoms; in addition, he had developed dystonia of hands and feet, tremors of hands and bradykinesia. WD was suspected and confirmed on finding a Kayser-Fleischer ring in cornea and serum ceruloplasmin of 8 mg% (Normal >60 mg%). MRI of brain showed symmetrical T2-weighted hyperintense lesions in lentiform nuclei. He improved with d-penicillamine and was asymptomatic at 6-month follow up. Autonomic function tests also improved [Table:1]. The SSRs normalized.
Common neurological manifestations of WD include dysarthria, dystonia, silly smile, tremors, Parkinsonism, cognitive impairment and cerebellar ataxia. Autonomic dysfunction is not commonly thought to be a manifestation of WD. However, literature review reveals evidence to the contrary. In a prospective study evaluating cardiac involvement in WD, 34% patients had electrocardiographic abnormalities. 20% had orthostatic hypotension and one-third had abnormal response to Valsalva maneuver. In another study, autonomic nervous system involvement was assessed with the help of SSRs and RR interval variation. SSRs were abnormal in 52%. However, parasympathetic function as assessed with RR interval variation in Valsalva maneuver was abnormal in only 3 patients. This suggested a predominant involvement of sympathetic functions rather than parasympathetic. In another study, abnormal and spontaneous changes in circadian rhythm of temperature, pulse and blood pressure were observed, with febrile peaks in the absence of an infective focus, suggestive of an autonomic dysfunction. Meenakshi-Sundaram et al reported dysautonomia in 38% (19/50) of patients with WD of varying duration and severity. These studies provide convincing evidence about autonomic dysfunction in WD. However, they are often asymptomatic and diagnosed with the help of clinical and electrophysiological tests.
There are conflicting reports regarding the mechanism of autonomic dysfunction in WD. Some reports favor a central origin.,,, Chu et al reported a significant prolongation of mean latencies and mean central conduction time favoring a central involvement. Meenakshi-Sundaram et al too favored central origin as they found normal peripheral nerve conductions in all. However, von Giesen et al found significantly higher thresholds for warm sensation in sural and peroneal nerves with the help of quantitative sensory testing indicative of damage to unmyelinated warm-specific C fibers, favoring a peripheral origin of dysautonomia.
In conclusion, one it should be noted that autonomic dysfunction occurs in WD and is probably underdiagnosed. Hence, WD should be excluded in a young individual presenting with autonomic dysfunction.
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